Diagnosis
Labels Achondroplasia
Babies with achondroplasia can be diagnosed before birth by ultrasound
measurements of the growth of their long bones and head size. After
birth, the diagnosis is usually based on x-ray studies of the child’s bones
and head size. The x-ray images usually reveal a small skull base, shortened
growth plates in the long bones, square-shaped long bones, and
normal-sized bones in the trunk area.
A genetic test can also be performed to confirm the diagnosis in children
whose symptoms may be less clear.
measurements of the growth of their long bones and head size. After
birth, the diagnosis is usually based on x-ray studies of the child’s bones
and head size. The x-ray images usually reveal a small skull base, shortened
growth plates in the long bones, square-shaped long bones, and
normal-sized bones in the trunk area.
A genetic test can also be performed to confirm the diagnosis in children
whose symptoms may be less clear.
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